A case of Lujan Fryns syndromes Case Report

Abstract

Summary The Lujan Fryns syndrome X linked mental retardation with marfanoid habitus syndrome is an X linked form of syndromal mental retardation affecting predominantly males The prevalence is not known The syndrome is associated with mild to moderate mental retardation distinct facial dysmorphism marfanoid stature long slender extremities and behavioural problems The diagnosis is based on the presence of the clinical manifestations Here we presented a 14 years and 2 months boy old boy who applied our outpatient clinic with the complaint of high stature height SDS:3 45 and diagnosed as Lujan Fryns syndrome with the detection of physical findings such as mental retarded appearence poor eye contact long face small chin molar hypoplasia high and narrow palate hypernasal speech pectus carinatum pes planus and long extremities and fingers Turk Arch Ped 2010; 45: 291 4 Key words: Lujan Fryns syndrome marfanoid habitus X linked mental retardation

Keywords

• -

Lujan Fryns sendromlu bir olgu sunumu Olgu Sunumu

Öz

Özet Lujan Fryns sendromu marfanoid habitus sendromlu X geçişli zeka geriliği özellikle erkek cinsiyeti etkileyen sendromlu zeka geriliğinin X geçişli formudur Sıklığı bilinmemektedir Hafif orta zeka geriliği belirgin yüz dismorfizmi marfanoid görünüm uzun silindir şekilli ekstremiteler ve davranış sorunları sendromun özellikleridir Tanı klinik bulgularla konur Burada polikliniğimize uzun boy yakınması ile başvuran boy SSS: 3 45 ve fizik muayenesinde; geri zekalı görünüm göz teması zayıflığı uzun yüz küçük çene molar hipoplazi yüksek ve dar damak yapısı hipernazal konuşma pektus karinatum pes planus uzun ekstremiteler ve parmaklar gibi bulguların saptanması ile Lujan Fryns sendromu tanısı konan 14 yaş 2 aylık erkek hasta sunulmuştur Türk Ped Arş 2010; 45: 291 4 Anahtar sözcükler: Lujan Fryns sendromu marfanoid görünüm X geçişli zeka geriliği

Anahtar Kelimeler

• Lujan-Fryns sendromu, marfanoid görünüm, X-geçişli zeka geriliği

Kaynakça

1. Mental retardation, X-linked, with marfanoid habitus, http://www.ncbi.nlm.nih.gov/entrez/dispomim =309520.
2. Schwartz CE, Tarpey PS, Lubs HA, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007; 44: 472-7. (Abstract) / (Full Text) / (PDF)
3. Tarpey PS, Raymond FL, Nguyen LS, et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 2007; 39: 1127-33. (Abstract) / (Full Text) / (PDF)
4. Lujan JE, Carlis ME, Lubs HA. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 1984; 17: 311-22. (Abstract)
5. Fryns JP, Buttiens M, van den Berghe H. Chromosome X-linked mental retardation and marfanoid syndrome. J Genet Hum 1988; 36: 123-8. (Abstract)
6. Lalatta F, Livini E, Selicorni A, et al. X-linked mental retardati- on with marfanoid habitus: first report of four Italian patients. Am J Med Genet 1991; 38: 228-32. (Abstract)
7. Stathopulu E, Mackie Ogilvie C, Flinter FA. Terminal deletion of chromosome 5p in a patient with phenotypical features of Lu- jan-Fryns syndrome. Am J Med Genet 2003; 119: 363-6. (Abstract) / (Full Text) / (PDF)
8. Wittine LM, Josephson KD, Wiliams MS. Aortic root dilation in apparent Lujan- Fryns syndrome. Am J Med Genet 1999; 86: 405-9. (Abstract) / (PDF)

9. Van Buggenhout G, Fryns JP. Lujan Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006; 1: 26. (Abstract) / (Full Text) / (PDF)